脊髓小脑共济失调2型蛋白抗体

脊髓小脑共济失调2型蛋白抗体 Background: The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ATX2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. ATX2 is caused by expansion of a CAG repeat in the coding region of ATX2. Longer expansions result in earlier onset of the disease. There are four named isoforms. Also known as: Ataxin 2; ATXN2; Olivopontocerebellar ataxia 2, autosomal dominant; SCA2; Spinocerebellar ataxia type 2 protein; TNRC13; Trinucleotide repeat containing gene 13 protein; SRRT_HUMAN.脊髓小脑共济失调2型蛋白抗体